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Robert Klitzman, M.D.

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Autism and Genes: The Good, the Bad and the Ugly

Posted: 04/12/2012 3:43 pm

"Three generations of imbeciles are enough," Supreme Court justice Oliver Wendell Holmes, Jr. wrote in 1927. He thus ruled that 18-year-old Carrie Buck should be sterilized against her will. In many ways, we have come a long way since then. Clearly, no one advocates forced sterilization for patients.

Yet recent discoveries of genetic mutations associated with autism, while offering hope for finding the causes of this disorder and effective treatments, also pose several critical underlying ethical, legal and social dilemmas that are worth reflecting on.

I am by no means equating Carrie Buck with many individuals today who have autism spectrum disorders. But we must try to avoid ignorance, discrimination, and quick ill-formed conclusions that led to errors in the past.

New genetic discoveries can provide vital benefits but also raise several important questions that need consideration.

Autism affects more than 1 percent of children. Evidence suggests that it may result from complex interactions between various genetic as well as other biological, and environmental factors (as do many other relatively common disorders).

Initially, scientists thought that most common ailments and traits resulted from single genetic markers. But genetics is turning out to be far more complex. Half of our genetic material is now considered "junk DNA." In reality, scientists just don't yet understand what it does.

Unfortunately, headlines in the media still mention "the stupidity gene," "the alcoholism gene," "the infidelity gene," and even "the God gene." Private companies sell direct-to-consumer genetic testing, promising valuable information. Alas, much of the information produced provides, at best, only slight increases in predispositions.

Until now, individuals have been able to choose whether to undergo genetic testing, but major medical centers have already begun establishing "biobanks," which will collect and sequence the full genomes of patients. These biobanks can hopefully lead to "personalized medicine" -- allowing doctors to determine for each of us which diseases we are at increased risk of developing, and which medications will be most effective for each of us.

Yet many patient advocates fear discrimination, which can be subtle. People with genetic mutations have told me that they have been "passed over" for promotion at work -- not fired, but marginalized.

The discovery of genes associated with autism raises these concerns anew. The Genetic Information Non-discrimination Act (GINA) is designed to try to prevent genetic discrimination in health care, but does not apply to life insurance, disability insurance or long-term care insurance. Currently, life insurers are free to request genetic information, and discriminate as a result.

Schools may learn of, or request genetic test results, and teachers may then discriminate against students with autism-associated mutations -- even if the mutation is not predictive (i.e., if some, but not all individuals with the mutation end up having symptoms). Parents may spend less time with a child found to have an autism-associated mutation than with other offspring.

Genetic information has been introduced into court rooms. The fact that a defendant in a crime has a mutation associated with autism may sway a court in judging guilt, causation, liability, or sentences.

Historically, perceived genetic differences between individuals have been used more nefariously as well -- as in the case of Carrie Buck. The Nazis also labeled many individuals as "degenerate" based on presumed genetics, with horrific results.

This is not to say that these scenarios will necessarily ensue, but we should use the identification of these new genes as an opportunity to act preventively -- to increase public and professional understandings about genetics and the complexities involved, and to enact policies to further prevent genetic discrimination. We need to make sure that we avoid mistakes of the past -- jumping to conclusions about causes of disease.

Most Americans do not know basic facts about genetics -- many do not know that our genes reside in every cell of our body. Most doctors admit deficits in their understandings of important aspects of genetics. These gaps need to be addressed. But efforts to do so remain limited. In the U.S., science education, more generally, has been falling.

Further legislation is also urgently needed. GINA is important, but no one law has eliminated discrimination concerning race, gender or disabilities. Despite several important civil rights laws, racism continues. GINA has not yet been tested in court and does not apply to many realms -- life insurance, disability insurance, long term care insurance, and schools. With large biobanks, it is unclear who exactly will have access to detailed genetic information, and leaks could occur. The possibility of genetic discrimination underscores, too, needs for universal health care.

This new research about autism marks a significant milestone, and holds much promise, but also poses potential dangers that we need to consider. We are not prepared for the onslaught of genetic information that all of us -- as individuals, family members, health care providers, and a society -- will soon be receiving. Increasing our understanding of these issues and the complexities involved, and enacting laws to fully protect against discrimination are vital.

So, what should we do? Luckily, tests for predicting autism have not yet entered clinical use. We should support members of Congress who want to ensure that research on these issues is properly funded by NIH. Unfortunately, Congressional support for NIH increased more in the past than in recent years. Our elected officials at federal and state levels also need to enact legislation to prevent genetic discrimination in life, disability, and long-term care insurance. Yet obstacles exist, since insurance companies might extract less profit as a result.

Nonetheless, justice and public concerns are paramount.

We also need to increase public education and awareness about these issues and support and enhance science education in elementary, junior high and high schools. Here, too, resources have often been cut. Yet, concerning autism and many other areas of our future, such resources are crucial. Finally, here and elsewhere, we need to decrease stigma and discrimination against those with autism, or other psychiatric problems.

How we -- as individuals and as a society -- respond to burgeoning genetic discoveries will be as important as these discoveries themselves.

For more by Robert Klitzman, M.D., click here.

For more on autism, click here.

 
 
 

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HUFFPOST SUPER USER
Jan Baer
grandparentoptions
09:04 AM on 04/15/2012
This is an important warning, and one we should put forth with our elected officials, who need to pay more attention to these real health matters, including understanding the genetic basis for autism, as well as to privacy issues. (Re other comments: As I understand it, autism often shows itself around two, and the fact that children are getting vaccinated about that time, people associate the two. Also, a suspected ingredient in the vaccination shot has long been eliminated, and the incidence of autism hasn't gone down.). Thanks for explaining the issues so thoroughly! www.grandparentoptions.com
07:38 PM on 04/14/2012
Genes as a cause of autism? Please.... tell that to the mother who watched her son or daughter become autistic very suddenly only a few hours or days after getting a plethora of vaccinations. Oh I know, "science" says they have nothing to do with it. I say they have everthing to do with it. If genetics plays any role it's because some have a predistposition to the neurological damage from the adjuvents in the vaccines more so than others. Injecting mercury, aluminum, formaldehyde, squalene, antibiotics, detergents, polysorbates, foreign and GM proteins into a newborn is tantamount legalized murder. You are simply lucky if you escape unscathed. 1 in 88 kids are now diagnosed with AUSD... 20 years ago it was 1 in 10,000. This is the greatest scandal in the history of the world. Vaccines are ineffectual, dangerous, and poisonous. Period.
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SithRose
Mommy, I need Cthulhu. He keeps bad dreams away.
12:11 PM on 04/17/2012
20 years ago, the majority of the children now being diagnosed wouldn't have been diagnosed at all.

I wasn't. My eldest wouldn't have been, he would have simply been called a difficult child. My mother wasn't. My second probably would have simply been labeled retarded or unwilling to work. They are now finding that autism IS prevalent in adults as well as in children...But those adults weren't diagnosed until much, much later in life because the criteria for diagnosis *has significantly changed* since 20 years ago.

It is not beyond reason to think that a SMALL fraction of the autistic community, particularly those with regressive autism, may have a genetic predisposition to a trigger event, whether it's caused by environmental toxin exposure, vaccines, or some other cause. I will point out that every ingredient in a vaccine *aside* from the actual viral material is widely present in the environment of every single city in this country. And it's also in the range of 1-2 that children start digging deeper into the world, being exposed more to those toxins in daily life.

Vaccines will always have some risk factors. However, I still feel that the risks of children dying from tetanus or polio, rendered deaf from rubella or deformed because their mother contracted rubella or chicken pox when pregnant is far worse than that of the vaccines.

Perhaps autism is really multiple separate disorders which manifest similar symptoms, and have different triggers, genetic links, and risk factors.
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Ranveig Elvebakk
Innovator, author and lecturer on weight and nutri
04:02 PM on 04/13/2012
This is an awful lot of mutations - on what genes? - since we only have a few more than a fruitfly. What we have is an onslaught of epigenetic forces that are regulating those genes to make us a chronically ill society. What does that mean? It means that our genes are fine but what we bathe those genes in is a toxic soup indeed. Research confirms that when we start cleaning up and activating different regulators, some 98% of our genes are fine. Starting here, we have a long way to go baby -
02:10 PM on 04/14/2012
I concur with the basic premise of the comment that too much empahsis has been placed on the genes themselves while much is unknown about the gene regulatory influences that have impact on the expression. I wish more money and resources were spent on this issue. A vacuum in knowledge to fully explain the exponential rise in autism has resulted in a plethora of hypothesis ranging from reasonble to outrageous (depending on one's perspective). Increasing evidence (albeit indirect and circumstantial) points to altered gut/digestion and nutrition as being playing a key role in pathogenesis.

So what is the gut-autism connection? Our digestive system and nutrition is not what it used to be. Numerous changes have occurred in our life style, nutrition as well an environment in times.
Rapid urbanization with fast paced life places has dramatically altered enviroment around us as well as nutritional intake that bear to semblance to the past. Frequent use of medications especially ones toxic to gut like nonsteroidal antiinflammatory drugs (NSAIDs) even when not needed damage the gut.

All such changes of recent times have modified our gastrointestinal physiology, the intestinal bacterial patterns and this may be at the heart of many of the chronic diseases suffered today. Studies supporting the concepts include those demonstrating altered gastrointestinal permeability (leaky gut) as well different patterns of bacterial flora as compared to non-autism controls. Whether studies like these reflect cause-effect relationship or an epiphenomenon remains to be established.
http://wp.me/p1WoF9-19
04:16 AM on 04/13/2012
The first time a parent is told that their child hasAutism will be a moment that they never forget.
Often, the moment has been preceded by months – or even years – of concern, guilt and even anger as their once happy and outgoing child becomes less communicative, less expressive and often less able to control their emotions.
Physical comfort, such as hugs and kisses, that used to soothe your child are no longer welcomed and unusual habits and obsessions become an important part of your child’s life. As a loving parent, you try everything to draw your child back out of the little world they’ve created for themselves, but nothing seems to work.
You talk to doctors, nurses, child-care specialists, positive parenting groups – anyone who can help you find the key to your child’s behaviour. And finally, it’s confirmed: your child is diagnosed Famous People with Autism.
But, while it can be a relief to finally discover the reason for your child’s difficulties – and to realize that it’s not your fault – a diagnosis of Autism canfeel like a life sentence. Parents of children with Autism experience a wide range of emotions – confusion, resentment, maybe even guilt that they were somehow unable to ‘protect’ their child from this condition. Many parents fear for their child’s future and feel certain that life will never be normal or enjoyable again.

Source: http://famouspeoplewithautism.blogspot.com/